第三代测序技术实现肿瘤患者类孟买血型深入鉴定  

In-depth identification of para-Bombay blood type in cancer patients using third-generation sequencing technology

作　　者：王娜[1] 余秀蓉 陈玉娟[1] WANG Na;YU Xiurong;CHEN Yujuan(Department of Blood Transfusion,Clinical Oncology School of Fujian Medical University,Fujian Cancer Hospital,Fuzhou 350014,China)

机构地区：[1]福建医科大学肿瘤临床医学院,福建省肿瘤医院输血科,福建福州350014

出　　处：《细胞与分子免疫学杂志》2025年第2期148-153,共6页Chinese Journal of Cellular and Molecular Immunology

摘　　要：目的对本院肿瘤患者类孟买血型进行精准鉴定,促进本实验室的疑难血型鉴定体系的建立,为实现患者精准输血提供基础。方法回顾性分析本院2019-01-01/2023-12-31的91874例肿瘤患者血型结果,采用常规血清学检测血型,检出疑似类孟买血型,进一步采用Pacific Biosciences(PacBio)单分子实时测序与Sanger测序分析ABO、FUT1和FUT2基因型。结果血清学和分子生物学方法证实8例类孟买血型,FUT1基因型分别是:5例h1h1(551_552delAG纯合突变)、3例h1h2(551_552delAG和880_882delTT杂合突变);FUT2基因型分别是:2例Se^(357)/Se^(357),716,4例Se^(357)/Se^(357)。其中1例样本ABO基因第7外显子中发现818C>T是杂合新变异,PacBio测序确认显示该突变位于O单倍体上。结论PacBio测序技术突显其在分析类孟买血型基因单倍体上的优势,将有利于疑难血型鉴定体系,为肿瘤患者精准输血提供新依据。Objective To precisely identify the para-Bombay blood types in cancer patients at our hospital,establish a robust system for the identification of challenging blood types in our laboratory,and provide a foundation for precise transfusion practices.Methods We retrospectively analyzed the blood type results of 91874 cancer patients from January 1,2019,to December 31,2023.Conventional serological methods were used to screen for blood types,and suspected para-Bombay blood types were identified.Further analysis was performed using Pacific Biosciences(PacBio)single-molecule real-time sequencing and Sanger sequencing was used to determine the genotypes of the ABO,FUT1,and FUT2 genes.Results Eight cases of para-Bombay blood type were confirmed through serological and molecular biological methods.The FUT1 genotypes identified were:5 cases of h1h1(homozygous mutation 551_552delAG)and 3 cases of h1h2(compound heterozygous mutations of 551_552delAG and 880_882delTT).The FUT2 genotypes identified were:2 cases of Se^(357)/Se 357,716 and 4 cases of Se^(357)/Se^(357).Additionally,one sample revealed a novel heterozygous mutation,818C>T,in exon 7 of the ABO gene,which was confirmed by PacBio sequencing to be located on the O haplotype.Conclusion PacBio sequencing technology demonstrates significant advantages in analyzing the haplotypes of para-Bombay blood type genes.This approach supports the establishment of a robust system for the identification of challenging blood types and provides novel evidence for precise transfusion practices in cancer patients.

关 键 词：类孟买血型 PacBio测序 FUT1基因 

分 类 号：R392[医药卫生—免疫学] R457.11[医药卫生—基础医学]